Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Centre for Inherited Metabolic Diseases, |
RCV001255378 | SCV001431774 | likely pathogenic | Maple syrup urine disease | 2020-06-02 | criteria provided, single submitter | clinical testing |